Mutation details:

Protein level identifier (n.a.):

p.Ala56Serfs*20

cDNA level identifier (n.a.):

c.165dupA

Gene level identifier:

g.117931dupA

Reference, alternative allele:

C, CT

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).